| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | Connective tissue disorder +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Holt-Oram syndrome +5 more | |
| | | Microsatellite (intron variant) | Loeys-Dietz syndrome 4 +1 more | |
| | | Microsatellite (intron variant) | Loeys-Dietz syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 4 +4 more | |
Click to view in NCBI Gene